School Of Health Sciences

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Author: search.filters.author.Panigrahi, InushaHas files: Yes

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    Mutational Analysis in Gaucher Disease: Implications in Genetic Counseling and Management
    (SciTechnol, 2016) Panigrahi, Inusha; Kalra, Jaswinder; Goyad, Prasoon; Khetarpal, Preeti; Munshi, Anjana
    Gaucher disease (GD) is the most common LSD worldwide. The disease is caused due to mutations in β-glucocerobrosidase (GBA) gene located on chromosome 1. The mutations results in the deficient activity of acid β-glucosidase (glucocerebrosidase) enzyme. It is inherited in an autosomal recessive fashion and both men and women are affected equally. We report here two families wherein the mutation analysis for the disease was performed as the clinical features of the children were suggestive of GD. In the first family the enzyme analysis reports of the children were normal but GD was confirmed upon mutation analysis. In another family who had come for prenatal diagnosis, the parents were confirmed to be heterozygote of normal mutation whereas the foetus was found to be of carrier status. The family had already lost two children who had clinical features suggestive of Gaucher. We conclude that in some cases the enzyme analysis report may not be conclusive and mutation analysis has to be carried out to confirm the disorder. Prenatal diagnosis for lysosomal storage disorders like GD is also recommended among high risk couples.
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    Primordial dwarfism: overview of clinical and genetic aspects
    (Springer Verlag, 2016) Khetarpal, Preeti; Das, Satrupa; Panigrahi, Inusha; Munshi, Anjana
    Primordial dwarfism is a group of genetic disorders which include Seckel Syndrome, Silver?Russell Syndrome, Microcephalic Osteodysplastic Primordial Dwarfism types I/III, II and Meier?Gorlin Syndrome. This genetic disorder group is characterized by intra-uterine growth retardation and post-natal growth abnormalities which occur as a result of disorganized molecular and genomic changes in embryonic stage and, thus, it represents a unique area to study growth and developmental abnormalities. Lot of research has been carried out on different aspects; however, a consolidated review that discusses an overall spectrum of this disorder is not accessible. Recent research in this area points toward important molecular and cellular mechanisms in human body that regulate the complexity of growth process. Studies have emerged that have clearly associated with a number of abnormal chromosomal, genetic and epigenetic alterations that can predispose an embryo to develop PD-associated developmental defects. Finding and associating such fundamental changes to its subtypes will help in re-examination of alleged functions at both cellular and developmental levels and thus reveal the intrinsic mechanism that leads to a balanced growth. Although such findings have unraveled a subtle understanding of growth process, we further require active research in terms of identification of reliable biomarkers for different subtypes as an immediate requirement for clinical utilization. It is hoped that further study will advance the understanding of basic mechanisms regulating growth relevant to human health. Therefore, this review has been written with an aim to present an overview of chromosomal, molecular and epigenetic modifications reported to be associated with different subtypes of this heterogenous disorder. Further, latest findings with respect to clinical and molecular genetics research have been summarized to aid the medical fraternity in their clinical utility, for diagnosing disorders where there are overlapping physical attributes and simultaneously inform about the latest developments in PD biology. ? 2015, Springer-Verlag Berlin Heidelberg.